ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031930
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246258
ClinVar RCV Id:
RCV000236945
RCV000628205
RCV000779798
RCV001013284
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.His605Arg
CA6264883
NM_001351834.2:c.1814A>G